New Mutation in the γ-S Crystallin Gene Linked to Cataract
Author Information
Author(s): Vanita Vanita, Jai Rup Singh, Daljit Singh, Raymonda Varon, Karl Sperling
Primary Institution: Guru Nanak Dev University, Amritsar, India
Hypothesis
To identify the underlying genetic defect in a north Indian family with bilateral congenital cataract.
Conclusion
A novel missense mutation, p.V42M, in the CRYGS gene is associated with bilateral congenital cataract in a north Indian family.
Supporting Evidence
- The mutation p.V42M was not found in unaffected family members or in 100 ethnically matched controls.
- The cataract type was opalescent with a denser central nuclear region.
- Linkage analysis excluded known candidate gene loci for congenital cataract.
Takeaway
Scientists found a new change in a gene that causes cataracts in some family members, which makes their lenses cloudy.
Methodology
Linkage analysis using microsatellite markers and mutation screening by bidirectional sequencing.
Limitations
The study only included one family, limiting the generalizability of the findings.
Participant Demographics
North Indian family with seven affected members across three generations.
Want to read the original?
Access the complete publication on the publisher's website